Genetic testing in hypertrophic cardiomyopathy (HCM) is a valuable tool to manage patients and their families. Genetic testing can help inform diagnosis and differentiate HCM from other disorders that also result in increased left ventricular wall thickness, thereby directly impacting treatment. Moreover, genetic testing can definitively identify at-risk relatives and focus family management. Pathogenic variants in sarcomere and sarcomere-related genes have been implicated in causing HCM, and targeted gene panel testing is recommended for patients once a clinical diagnosis has been established. If a pathogenic or likely pathogenic variant is identified in a patient with HCM, predictive genetic testing is recommended for their at-risk relatives to determine who is at risk and to guide longitudinal screening and risk stratification. However, there are important challenges and considerations to implementing genetic testing in clinical practice. Genetic testing results can have psychological and other implications for patients and their families, emphasising the importance of genetic counselling before and after genetic testing. Determining the clinical relevance of genetic testing results is also complex and requires expertise in understanding of human genetic variation and clinical manifestations of the disease. In this review, we discuss the genetics of HCM and how to integrate genetic testing in clinical practice.
As the coronavirus disease 2019 (COVID-19) pandemic ensues, it has posed a greater challenge in heart transplant recipients, a particularly vulnerable patient cohort. Transplant recipients are likely susceptible given the immunosuppressed state, presence of co-morbidities including hypertension, diabetes mellitus, and chronic kidney disease, and frequent contact with the healthcare system, leading to an overall increase in mortality. The attributable risk, however, is largely unknown. Preliminary reports suggest that the clinical course of COVID-19 may be similar in orthotopic heart transplant (OHT) and non-transplant patients. 1 Calcineurin inhibitors (CNIs) are the cornerstone treatment that block T-cell activation, effectively suppressing alloimmunity. In vitro studies have demonstrated that CNIs may inhibit viral replication of coronaviruses and hepatitis C, 2 whereas there have not been consistent data to support the same with the use of mycophenolate mofetil (MMF). 3,4 mTOR inhibitors may also suppress viral replication, and thus, clinical investigation is ongoing. 5 Although there may be inhibitory effects of these medications, lowering the dosage or withholding select immunosuppressive drugs in the early disease course may attenuate clinical expression of the disease depending on severity albeit with increased risk for rejection. The impact of change of immunosuppressive therapy needs to be further evaluated.
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